L72R (p.Leu72Arg) variant of PTH (Parathyroid hormone)
L72R (p.Leu72Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
L72R (p.Leu72Arg) variant details
- p.Leu72Arg
- gnomAD rs1396530954
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- MetaLR 0.26
- MetaSVM -0.81
- CADD 10.30
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the 1KG:CLM population (allele frequency 0.0053)